Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings (Q34303763)

1 August 2017

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings (English)

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1 August 2017

18

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Alexandra Durr

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Alexandra Durr

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1 August 2017

1

Fanny Mochel

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1 August 2017

24

Alexander Lossos

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1 August 2017

23

Marjo S van der Knaap

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1 August 2017

6

Frédéric Sedel

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1 August 2017

7

Pascal Laforêt

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1 August 2017

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Thierry Maisonobe

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1 August 2017

Raphael Schiffmann

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1 August 2017

Marjan E Steenweg

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1 August 2017

Hasan O Akman

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1 August 2017

Mary Wallace

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1 August 2017

Richard Levy

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1 August 2017

J Michael Powers

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1 August 2017

Sophie Demeret

10

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1 August 2017

Roseline Froissart

12

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1 August 2017

Bruno Barcelos Da Nobrega

13

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1 August 2017

Brent L Fogel

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1 August 2017

Marvin R Natowicz

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1 August 2017

Catherine Lubetzki

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1 August 2017

Hanna Rosenmann

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1 August 2017

Varda Barash

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1 August 2017

Or Kakhlon

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1 August 2017

J Moshe Gomori

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1 August 2017

language of work or name

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1 September 2012

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1 August 2017

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72

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1 August 2017

433-441

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Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Animal models of glycogen storage disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Astrocyte-neuron metabolic relationships: for better and for worse

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Magnetic resonance findings in leucodystrophies and MS.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Can MR imaging diagnose adult-onset Alexander disease?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Adult polyglucosan body disease: proton magnetic resonance spectroscopy of the brain and novel mutation in the GBE1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Adult polyglucosan body disease: a case report of a manifesting heterozygote

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Adult polyglucosan body disease: a postmortem correlation study.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Adult polyglucosan body disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Familial dementia due to adult polyglucosan body disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora'

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Adult polyglucosan body disease (APBD).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Polyglucosan body disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Hereditary branching enzyme dysfunction in adult polyglucosan body disease: A possible metabolic cause in two patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4329926

Extensive white-matter changes in case of adult polyglucosan body disease.

28 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.23598

Congenital form of glycogen storage disease type IV: a case report and a review of the literature.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.23598

Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": an exceptional phenotype in a rare pathology.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FANA.23598

Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome

21 January 2018

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12 December 2020

Adult polyglucosan body disease: The diagnostic value of axilla skin biopsy

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12 December 2020

Spinal cord MRI in adult polyglucosan body disease

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12 December 2020

Juvenile hereditary polyglucosan body disease with complete branching enzyme deficiency (type IV glycogenosis)

1 reference

12 December 2020

Glycogen branching enzyme deficiency in adult polyglucosan body disease

1 reference

12 December 2020

Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

1 reference

12 December 2020

Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

1 reference

12 December 2020

Polyglucosan body disease myopathy: an unusual presentation

1 reference

12 December 2020

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

1 reference

12 December 2020

Identifiers

DOI

10.1002/ANA.23598

1 reference

1 August 2017

1 reference

1 August 2017

1 reference